title: MtDNA haplogroups M7 and B in southwestern Han Chinese at risk for acute mountain sickness.
abstract: We conducted a case-control study to investigate the association of mitochondrial DNA (mtDNA) haplogroups with acute mountain sickness (AMS) in Han Chinese from southwestern (SW) China. Pearson's chi-square test or Fisher's exact test revealed significant reduction of mtDNA haplogroups D and M9, while a significant increase of haplogroup M7 in AMS subjects compared with non-AMS subjects. The multivariate logistic regression analysis after adjustment for body mass index (BMI), a risk factor of AMS in the present study, showed that both D and M9 were associated with significantly decreased risk of AMS, while M7 was associated with a significantly increased risk of AMS (OR=0.605, p=0.000; OR=0.037, p=0.001, and OR=2.419, p=0.001, respectively). In addition, further analysis stratified by the AMS severities indicated that haplogroup B was correlated with a 2.41-folds increased risk of developing severe AMS (95%C.I=1.288-4.514, p=0.006). Our findings provide evidence that, in SW Han Chinese, mtDNA haplogroups D and M9 are related to individual tolerance to AMS, while haplogroups M7 and B are risk factors for AMS.
authors.affiliation: Institute of Human Respiratory Disease, Xinqiao Hospital, Third Military Medical University, Chongqing 400037, China.
authors.forename: Fu-Xiang
authors.initials: FX
authors.lastname: Li
authors.forename: Fu-Yun
authors.initials: FY
authors.lastname: Ji
authors.forename: Shi-Zhen
authors.initials: SZ
authors.lastname: Zheng
authors.forename: Wei
authors.initials: W
authors.lastname: Yao
authors.forename: Zhen-Liang
authors.initials: ZL
authors.lastname: Xiao
authors.forename: Gui-Sheng
authors.initials: GS
authors.lastname: Qian
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000531:Altitude; D000532:Altitude Sickness / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D015992:Body Mass Index; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics; D017382:Reactive Oxygen Species / Q000378:metabolism; D012307:Risk Factors; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial; D017382:Reactive Oxygen Species